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rs1085307115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome1
Position153991198
GeneRAB13, RPS27
is asnp
is mentioned by
dbSNPrs1085307115
dbSNP (classic)rs1085307115
ClinGenrs1085307115
ebirs1085307115
HLIrs1085307115
Exacrs1085307115
Gnomadrs1085307115
Varsomers1085307115
LitVarrs1085307115
Maprs1085307115
PheGenIrs1085307115
Biobankrs1085307115
1000 genomesrs1085307115
hgdprs1085307115
ensemblrs1085307115
geneviewrs1085307115
scholarrs1085307115
googlers1085307115
pharmgkbrs1085307115
gwascentralrs1085307115
openSNPrs1085307115
23andMers1085307115
23andMe allrs1085307115
SNPshotrs1085307115
SNPdbers1085307115
MSV3drs1085307115
GWAS Ctlgrs1085307115
Max Magnitude0
ClinVar
Risk rs1085307115(-;-)
Alt rs1085307115(-;-)
Reference Rs1085307115(C;C)
Significance Pathogenic
Disease Diamond-Blackfan anemia 17
Variation info
Gene RPS27
CLNDBN Diamond-Blackfan anemia 17
Reversed 0
HGVS NC_000001.10:g.153963674delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000477728.1,